29 relations: Angelman syndrome, Base pair, Cell (biology), Chromosomal translocation, Chromosome 15, Enzyme, Gene, Genomic imprinting, Lck, Long non-coding RNA, MCM7, MECP2, Mutation, Neuroglia, Neuron, Prader–Willi syndrome, Progesterone receptor, Proteasome, Protein, Protein–protein interaction, TSC2, Tyrosine-protein kinase BLK, UBE2D1, UBE2D2, UBE2L3, Ube3a-ATS, Ubiquitin, UBQLN1, UBQLN2.
Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system.
A base pair (bp) is a unit consisting of two nucleobases bound to each other by hydrogen bonds.
The cell (from Latin cella, meaning "small room") is the basic structural, functional, and biological unit of all known living organisms.
In genetics, a chromosome translocation is a chromosome abnormality caused by rearrangement of parts between nonhomologous chromosomes.
Chromosome 15 is one of the 23 pairs of chromosomes in humans.
Enzymes are macromolecular biological catalysts.
In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.
Genomic imprinting is an epigenetic phenomenon that causes genes to be expressed in a parent-of-origin-specific manner.
Lck (or lymphocyte-specific protein tyrosine kinase) is a 56 kDa protein that is found inside specialized cells of the immune system called lymphocytes.
Long non-coding RNAs (long ncRNAs, lncRNA) are defined as transcripts longer than 200 nucleotides that are not translated into protein.
DNA replication licensing factor MCM7 is a protein that in humans is encoded by the MCM7 gene.
MECP2 (methyl CpG binding protein 2 (Rett syndrome)) is a gene that encodes the protein MECP2.
In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.
Neuroglia, also called glial cells or simply glia, are non-neuronal cells in the central nervous system (brain and spinal cord) and the peripheral nervous system.
A neuron, also known as a neurone (British spelling) and nerve cell, is an electrically excitable cell that receives, processes, and transmits information through electrical and chemical signals.
Prader–Willi syndrome (PWS) is a genetic disorder due to loss of function of specific genes.
The progesterone receptor (PR), also known as NR3C3 or nuclear receptor subfamily 3, group C, member 3, is a protein found inside cells.
Proteasomes are protein complexes which degrade unneeded or damaged proteins by proteolysis, a chemical reaction that breaks peptide bonds.
Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues.
Protein–protein interactions (PPIs) are the physical contacts of high specificity established between two or more protein molecules as a result of biochemical events steered by electrostatic forces including the hydrophobic effect.
Tuberous Sclerosis Complex 2 (TSC2), also known as Tuberin, is a protein that in humans is encoded by the TSC2 gene.
Tyrosine-protein kinase BLK also known as B lymphocyte kinase is an enzyme that in humans is encoded by the BLK gene.
Ubiquitin-conjugating enzyme E2 D1 is a protein that in humans is encoded by the UBE2D1 gene.
Ubiquitin-conjugating enzyme E2 D2 is a protein that in humans is encoded by the UBE2D2 gene.
Ubiquitin-conjugating enzyme E2 L3 (UBE2L3), also called UBCH7, is a protein that in humans is encoded by the UBE2L3 gene.
UBE3A-ATS/Ube3a-ATS (human/mouse), otherwise known as ubiquitin ligase E3A-ATS, is the name for the antisense DNA strand that is transcribed as part of a larger transcript called LNCAT (large non-coding antisense transcript) at the Ube3a locus.
Ubiquitin is a small (8.5 kDa) regulatory protein found in most tissues of eukaryotic organisms, i.e. it occurs ''ubiquitously''.
Ubiquilin-1 is a protein that in humans is encoded by the UBQLN1 gene.
Ubiquilin-2 is a protein that in humans is encoded by the UBQLN2 gene.